ClinVar for Gene (Select 65121) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638261	NM_023013.4(PRAMEF1):c.441A>G (p.Leu147=)	PRAMEF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612288	NM_023013.4(PRAMEF1):c.430C>T (p.His144Tyr)	PRAMEF1 (H144Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609945	NM_023013.4(PRAMEF1):c.1136T>A (p.Leu379His)	PRAMEF1 (L134H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602449	NM_023013.4(PRAMEF1):c.349C>T (p.Pro117Ser)	PRAMEF1 (P117S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601296	NM_023013.4(PRAMEF1):c.395G>A (p.Arg132Lys)	PRAMEF1 (R132K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557732	NM_023013.4(PRAMEF1):c.1073G>A (p.Gly358Asp)	PRAMEF1 (G113D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546661	NM_023013.4(PRAMEF1):c.1085A>G (p.His362Arg)	PRAMEF1 (H117R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533665	NM_023013.4(PRAMEF1):c.301C>G (p.Gln101Glu)	PRAMEF1 (Q101E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527118	NM_023013.4(PRAMEF1):c.858G>C (p.Gln286His)	PRAMEF1 (Q286H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519066	NM_023013.4(PRAMEF1):c.867G>A (p.Arg289=)	PRAMEF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2486105	NM_023013.4(PRAMEF1):c.326A>C (p.Asp109Ala)	PRAMEF1 (D109A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471425	NM_023013.4(PRAMEF1):c.651G>T (p.Trp217Cys)	PRAMEF1 (W217C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470555	NM_023013.4(PRAMEF1):c.230C>T (p.Thr77Ile)	PRAMEF1 (T77I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2386609	NM_023013.4(PRAMEF1):c.572C>T (p.Pro191Leu)	PRAMEF1 (P191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381782	NM_023013.4(PRAMEF1):c.958G>A (p.Gly320Ser)	PRAMEF1 (G320S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366750	NM_023013.4(PRAMEF1):c.250G>T (p.Gly84Trp)	PRAMEF1 (G84W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366476	NM_023013.4(PRAMEF1):c.65C>T (p.Ala22Val)	PRAMEF1 (A22V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350322	NM_023013.4(PRAMEF1):c.707A>C (p.Lys236Thr)	PRAMEF1 (K236T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344426	NM_023013.4(PRAMEF1):c.1123C>T (p.Arg375Cys)	PRAMEF1 (R130C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341904	NM_023013.4(PRAMEF1):c.1175A>G (p.Asp392Gly)	PRAMEF1 (D392G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2301065	NM_023013.4(PRAMEF1):c.1024G>A (p.Ala342Thr)	PRAMEF1 (A97T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283370	NM_023013.4(PRAMEF1):c.606A>G (p.Ile202Met)	PRAMEF1 (I202M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282420	NM_023013.4(PRAMEF1):c.988G>T (p.Val330Leu)	PRAMEF1 (V85L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244823	NM_023013.4(PRAMEF1):c.14C>G (p.Ala5Gly)	PRAMEF1 (A5G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230645	NM_023013.4(PRAMEF1):c.655C>T (p.Arg219Cys)	PRAMEF1 (R219C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210060	NM_023013.4(PRAMEF1):c.253C>T (p.Leu85Phe)	PRAMEF1 (L85F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205584	NM_023013.4(PRAMEF1):c.746A>G (p.Asn249Ser)	PRAMEF1 (N249S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 980396	GRCh37/hg19 1p36.22-36.21(chr1:12690931-12910728)x4	HNRNPCL1, PRAMEF11 +5 more	Copy number gain	not provided	GUncertain significance
Select item 769505	NM_023013.4(PRAMEF1):c.27A>C (p.Leu9=)	PRAMEF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 599310	Single allele	AADACL3, AADACL4 +11 more	Deletion	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GUncertain significance
Select item 443150	GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	AADACL3, AADACL4 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442266	GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	AADACL3, AADACL4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 441991	GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	AADACL3, AADACL4 +34 more	Copy number loss	See cases	GLikely pathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	PRAMEF5, PRAMEF6 +98 more	Copy number loss	See cases	GLikely pathogenic
Select item 403339	NM_023013.4(PRAMEF1):c.329A>G (p.Glu110Gly)	PRAMEF1 (E110G)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 403338	NM_023013.4(PRAMEF1):c.321T>C (p.Asp107=)	PRAMEF1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 395144	GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	AADACL3, AADACL4 +96 more	Copy number loss	See cases	GPathogenic
Select item 395059	GRCh37/hg19 1p36.22-36.21(chr1:12357424-13187457)x3	AADACL3, AADACL4 +14 more	Copy number gain	See cases	GLikely benign
Select item 253459	GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	CCNL2, CDK11A +188 more	Copy number loss	See cases	GPathogenic
Select item 221357	chr1:909238-16736132 complex variant	AADACL3, AADACL4 +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	C1orf159, C1orf167 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	PRAMEF7, PRAMEF8 +563 more	Copy number gain	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 153514	GRCh38/hg38 1p36.22-36.21(chr1:12264268-13119398)x3	AADACL3, AADACL4 +34 more	Copy number gain	See cases	GUncertain significance
Select item 153434	GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	AADACL3, AADACL4 +209 more	Copy number gain	See cases	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	LOC129929360, LOC129929361 +370 more	Copy number loss	See cases	GPathogenic
Select item 148967	GRCh38/hg38 1p36.21(chr1:12627415-13993978)x3	AADACL3, AADACL4 +49 more	Copy number gain	See cases	GLikely pathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	AADACL3, AADACL4 +557 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 147067	GRCh38/hg38 1p36.21(chr1:12666714-13181499)x3	AADACL3, AADACL4 +21 more	Copy number gain	See cases	GBenign
Select item 147038	GRCh38/hg38 1p36.21(chr1:12779298-13075120)x1	HNRNPCL1, HNRNPCL3 +11 more	Copy number loss	See cases	GBenign
Select item 146143	GRCh38/hg38 1p36.22-36.21(chr1:12293275-13111197)x3	AADACL3, AADACL4 +32 more	Copy number gain	See cases	GBenign
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	AADACL3, AADACL4 +505 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 78